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[The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies]. [基因的临床可操作性：罕见疾病的概念和对肌病的首次客观评估]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024128
Emmanuelle Pion, Gisèle Bonne, Antonio Atalaia, Emmanuelle Salort-Campana, Svetlana Gorokhova, Shahram Attarian, Mireille Cossée, Martin Krahn
{"title":"[The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies].","authors":"Emmanuelle Pion, Gisèle Bonne, Antonio Atalaia, Emmanuelle Salort-Campana, Svetlana Gorokhova, Shahram Attarian, Mireille Cossée, Martin Krahn","doi":"10.1051/medsci/2024128","DOIUrl":"10.1051/medsci/2024128","url":null,"abstract":"<p><p>High-throughput sequencing has introduced the concept of \"actionable genes\". These genes are linked to diseases for which specific treatments or care exist. Accurate genetic diagnosis is therefore crucial for initiating interventions that can prevent or delay the progression of rare diseases. High-throughput sequencing has considerably increased the capacities of genetic analyses, but it has also led to an increase in requests for analyses, lengthening the time taken to obtain results. It is becoming necessary to prioritize analyses, especially when \"actionable genes\" are suspected to be implicated. In the case of myopathies, a French national study has identified 63 actionable genes, implicated in diseases for which a targeted treatment and/or priority care can be initiated, thereby improving the patient's prognosis. Despite advances, many rare diseases remain without specific treatments, underlining the continuing importance of research and innovation in medical genetics.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"6-8"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Advances and Challenges in Microdystrophin gene therapy for Duchenne Muscular Dystrophy: progress and future directions]. [微囊营养素基因疗法治疗杜氏肌肉萎缩症的进展与挑战：进展与未来方向]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024138
Abbass Jaber, Laura Palmieri, Evelyne Gicquel, Isabelle Richard, David Israeli
{"title":"[Advances and Challenges in Microdystrophin gene therapy for Duchenne Muscular Dystrophy: progress and future directions].","authors":"Abbass Jaber, Laura Palmieri, Evelyne Gicquel, Isabelle Richard, David Israeli","doi":"10.1051/medsci/2024138","DOIUrl":"10.1051/medsci/2024138","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is a severe degenerative genetic muscle disease affecting mainly young boys, characterized by a significant alteration or absence of dystrophin expression. Significant strides have been made in comprehending and treating DMD, particularly with the recent approval of the first gene therapy using a recombinant adeno-associated vector (rAAV) to deliver a shortened form of dystrophin (microdystrophin). Nevertheless, major challenges remain in improving therapeutic outcomes. The use of rAAV vectors is hindered by major limitations, notably the risks of immunotoxicity and hepatotoxicity, linked to high-dose administration. Additionally, microdystrophin exhibits inherent functional limitations and immunological risks. This article examines these challenges and explores the avenues for enhancing gene therapy for DMD.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"46-51"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Kant and the smallpox inoculation]. [康德与天花接种]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024108
Marie Hervé
{"title":"[Kant and the smallpox inoculation].","authors":"Marie Hervé","doi":"10.1051/medsci/2024108","DOIUrl":"https://doi.org/10.1051/medsci/2024108","url":null,"abstract":"<p><p>Smallpox was an endemic, very contagious disease which caused a high mortality rate during the age of enlightenment. In order to counter act this epidemic, smallpox inoculation was developed. This technique consisted in the inoculation of infected pus taken from a sick person into a healthy one in order to prevent the risks of natural smallpox infection. It was in this context that a German doctor in charge of inoculation wrote to Kant twice in 1799, and again in 1800, to ask him if inoculation was morally permissible. Kant wrote a draft of an answer, but it was never completed or published during his lifetime. These drafts provide elements of an answer that he nevertheless refused to give explicitly in the Doctrine of Virtue (1797) where the question of the morality of inoculation remained unanswered.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"782-787"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A dream of preventive medicine]. [预防医学的梦想］
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024107
Bertrand Jordan
{"title":"[A dream of preventive medicine].","authors":"Bertrand Jordan","doi":"10.1051/medsci/2024107","DOIUrl":"https://doi.org/10.1051/medsci/2024107","url":null,"abstract":"<p><p>Multi-Cancer Early Detection is a highly popular topic, bringing the hope of being able to detect very early, non-symptomatic cancers and allowing more successful therapy. A major company in this space is GRAIL, which has attracted very significant financing and launched large-scale tests of its detection systems. However, the real clinical utility of these tests remains to be demonstrated, and fundamental issues are still pending.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"789-791"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Estrogen receptors and vascular aging]. [雌激素受体与血管老化]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024115
Juline Marjollet, Mélissa Buscato, Morgane Davezac, Emilie Vessieres, Anna Gosset, Marine Adlanmerini, Daniel Henrion, Francoise Lenfant, Jean-François Arnal, Coralie Fontaine
{"title":"[Estrogen receptors and vascular aging].","authors":"Juline Marjollet, Mélissa Buscato, Morgane Davezac, Emilie Vessieres, Anna Gosset, Marine Adlanmerini, Daniel Henrion, Francoise Lenfant, Jean-François Arnal, Coralie Fontaine","doi":"10.1051/medsci/2024115","DOIUrl":"10.1051/medsci/2024115","url":null,"abstract":"<p><p>After years of studying cardiovascular diseases (CVD) in men due to their higher incidence compared to women, attention is now being paid to female CVD and their pathophysiology. Even though premenopausal women have a lower incidence of CVD, this disparity progressively diminishes after menopause, highlighting the key role of sex hormones. Many preclinical and fundamental studies have demonstrated protective effects of estrogens on arterial endothelium, suggesting that hormone therapy could improve cardiovascular health in menopausal women. However, disappointing outcomes from a major clinical trial two decades ago questioned the cardiovascular protection by estrogens with age. In this review, we will summarize the main clinical and experimental studies reporting the effects of estrogens on CVD, with a focus on their impact on endothelial function. Then, we will present abnormalities in the expression and signaling of estrogen receptors (ERs) in the arteries, and the contribution of conventional estrogens to arterial protection during aging. Finally, we will examine how recent advances in the mechanisms of action of ERa could help to optimize hormone therapy for menopause.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"729-736"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The human microbiome proofed by the Anthropocene: from correlation to causality and intervention]. [人类世证明的人类微生物组：从相关性到因果关系和干预]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024121
Philippe J Sansonetti, Joël Doré
{"title":"[The human microbiome proofed by the Anthropocene: from correlation to causality and intervention].","authors":"Philippe J Sansonetti, Joël Doré","doi":"10.1051/medsci/2024121","DOIUrl":"https://doi.org/10.1051/medsci/2024121","url":null,"abstract":"<p><p>The deleterious effects of human activities on biodiversity in the vegetal and animal world, and on climate changes are now well-established facts. However, little is yet known on the impact of human activities on microbial diversity on the planet and more specifically on the human microbiota Large implementation of metagenomics allows exaustive microbial cataloguing with broad spatio-temporal resolution of human microbiota. A reduction in bacterial richness and diversity in the human microbiota, particularly in the intestinal tract, is now established and particularly obvious in the most industrialized regions of the planet. Massive, uncontrolled use of antibiotics, drastic changes in traditional food habits and some elements of the \"global exposome\" that remain to identify are usually considered as stressors accounting for this situation of \"missing microbes\". As a consequence, a dysbiotic situation develops, a \"dysbiosis\" being characterized by the erosion of the central core of shared bacterial species across individuals and the development of opportunistic \"pathobionts\" in response to a weaker barrier capacity of these impoverished microbiota. The current challenge is to establish a causality link between the extension of these dysbiotic situations and the steady emergence of epidemic, non-communicable diseases such as asthma, allergy, obesity, diabetes, autoimmune diseases and some cancers. Experimental animal models combined with controlled, prospective clinical interventions are in demand to consolidate causality links, with the understanding that in the deciphering of the mechanisms of alteration of the human-microbiome symbiosis resides a novel exciting chapter of medicine: \"microbial medicine\".</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"757-765"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The controversy over cholesterol and statins: An example of medical fake news]. [关于胆固醇和他汀类药物的争议：医学假新闻的一个例子]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024111
Alain Tedgui
{"title":"[The controversy over cholesterol and statins: An example of medical fake news].","authors":"Alain Tedgui","doi":"10.1051/medsci/2024111","DOIUrl":"https://doi.org/10.1051/medsci/2024111","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"705-706"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The IGF2BP2 ribonucleoprotein complex is co-opted by Zika virus to control the biogenesis of viral replication organelles]. [寨卡病毒利用 IGF2BP2 核糖核蛋白复合物控制病毒复制细胞器的生物生成】。］
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024113
Clément Mazeaud, Flavie Charbonneau, Laurent Chatel-Chaix
{"title":"[The IGF2BP2 ribonucleoprotein complex is co-opted by Zika virus to control the biogenesis of viral replication organelles].","authors":"Clément Mazeaud, Flavie Charbonneau, Laurent Chatel-Chaix","doi":"10.1051/medsci/2024113","DOIUrl":"https://doi.org/10.1051/medsci/2024113","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"711-713"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Mitochondria play a critical role in the replication of Herpes simplex virus of type 1]. [线粒体在 1 型单纯疱疹病毒的复制中起着关键作用]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024120
Simon Leclerc
{"title":"[Mitochondria play a critical role in the replication of Herpes simplex virus of type 1].","authors":"Simon Leclerc","doi":"10.1051/medsci/2024120","DOIUrl":"https://doi.org/10.1051/medsci/2024120","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"716-718"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France]. [遗传疾病高通量测序结果的解读：法国全国同质化的实施]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-10-01 Epub Date: 2024-10-25 DOI: 10.1051/medsci/2024104
Svetlana Gorokhova, Cécile Rouzier, Cécile Acquaviva-Bourdain, Stéphanie Baert-Desurmont, Sandrine Caputo, Nicolas Chatron, Florence Coulet, Martine Doco-Fenzy, Boris Keren, Cédric Le Marechal, Gaël Nicolas, Vincent Procaccio, Pascale Richard, Pauline Romanet, Sarah Snanoudj, Jean Muller, Martin Krahn, Pascale Saugier-Veber
{"title":"[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].","authors":"Svetlana Gorokhova, Cécile Rouzier, Cécile Acquaviva-Bourdain, Stéphanie Baert-Desurmont, Sandrine Caputo, Nicolas Chatron, Florence Coulet, Martine Doco-Fenzy, Boris Keren, Cédric Le Marechal, Gaël Nicolas, Vincent Procaccio, Pascale Richard, Pauline Romanet, Sarah Snanoudj, Jean Muller, Martin Krahn, Pascale Saugier-Veber","doi":"10.1051/medsci/2024104","DOIUrl":"https://doi.org/10.1051/medsci/2024104","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 10","pages":"767-769"},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142503229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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